Canonical Allele Identifier: CA366030851
Gene: IYD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150389535G>A , CM000668.2:g.150389535G>A GRCh38
NC_000006.11:g.150710671G>A , CM000668.1:g.150710671G>A GRCh37
NC_000006.10:g.150752364G>A NCBI36
NG_016007.1:g.25644G>A
NG_016007.2:g.25644G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344419.8:c.362G>A MANE Select ENSP00000343763.4:p.Arg121Lys
ENST00000229447.9:c.362G>A ENSP00000229447.5:p.Arg121Lys
ENST00000344419.7:c.362G>A ENSP00000343763.3:p.Arg121Lys
ENST00000367335.7:c.362G>A ENSP00000356304.3:p.Arg121Lys
ENST00000392255.7:c.362G>A ENSP00000376084.3:p.Arg121Lys
ENST00000392256.6:c.362G>A ENSP00000376085.2:p.Arg121Lys
ENST00000422583.2:c.179+60G>A ENSP00000397342.2:n.179+60G>A
ENST00000425615.3:c.197G>A ENSP00000390081.3:p.Arg66Lys
ENST00000500320.7:c.362G>A ENSP00000441276.1:p.Arg121Lys
ENST00000546121.1:n.305G>A
NM_001164694.1:c.362G>A NP_001158166.1:p.Arg121Lys
NM_001164695.1:c.362G>A NP_001158167.1:p.Arg121Lys
NM_203395.2:c.362G>A NP_981932.1:p.Arg121Lys
XM_006715478.2:c.362G>A XP_006715541.1:p.Arg121Lys
XM_006715479.2:c.197G>A XP_006715542.1:p.Arg66Lys
XR_245516.3:n.525G>A
NM_001318495.1:c.124+60G>A NP_001305424.1:n.124+60G>A
NR_134655.1:n.502G>A
XM_006715478.3:c.362G>A XP_006715541.1:p.Arg121Lys
XM_006715479.3:c.197G>A XP_006715542.1:p.Arg66Lys
NM_001164694.2:c.362G>A NP_001158166.1:p.Arg121Lys
NM_001164695.2:c.362G>A NP_001158167.1:p.Arg121Lys
NM_001318495.2:c.124+60G>A NP_001305424.1:n.124+60G>A
NM_203395.3:c.362G>A MANE Select NP_981932.1:p.Arg121Lys
NR_134655.2:n.382G>A